A novel epithelial sodium channel β-subunit mutation associated with hypertensive Liddle syndrome
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- Freundlich, M. & Ludwig, M. Pediatr Nephrol (2005) 20: 512. doi:10.1007/s00467-004-1751-2
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Low-renin hypertension responsive to amiloride-thiazide therapy in a 4-year-old Afro-Haitian girl suggested Liddle syndrome. Urine steroid profiling substantiated the diagnosis and DNA analysis of the epithelial sodium channel (ENaC) revealed a novel heterozygous βENaC mutation in the patient and in her hypertensive father. Liddle syndrome should be considered as a cause of hypertension in young children particularly with suppressed renin activity.